Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39230087G>A , CM000684.2:g.39230087G>A | GRCh38 |
| NC_000022.10:g.39626092G>A , CM000684.1:g.39626092G>A | GRCh37 |
| NC_000022.9:g.37956038G>A | NCBI36 |
| NG_012111.1:g.19866C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002608.4:c.598C>T MANE Select | NP_002599.1:p.Arg200Ter |
| ENST00000331163.11:c.598C>T MANE Select | ENSP00000330382.6:p.Arg200Ter |
| NM_002608.2:c.598C>T | NP_002599.1:p.Arg200Ter |
| NM_002608.3:c.598C>T | NP_002599.1:p.Arg200Ter |
| NM_033016.2:c.553C>T | NP_148937.1:p.Arg185Ter |
| NM_033016.3:c.553C>T | NP_148937.1:p.Arg185Ter |
| ENST00000331163.10:c.598C>T | ENSP00000330382.6:p.Arg200Ter |
| ENST00000381551.8:c.553C>T | ENSP00000370963.4:p.Arg185Ter |